IthaID: 825


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 6 GAG>GTG; CD 68 CTC>TTC HGVS Name: HBB:c.[20A>T;205C>T]
Hb Name: Hb Jamaica Plain Protein Info: β 6(A3) Glu>Val AND β 68(E12) Leu>Phe

Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)

Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Sickling
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70614
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Puerto Rican
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Geva A, Clark JJ, Zhang Y, Popowicz A, Manning JM, Neufeld EJ, Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity., The New England journal of medicine, 351(15), 1532-8, 2004
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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